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APEH Gene

protein-coding   GIFtS: 63
GCID: GC03P049711

Acylaminoacyl-Peptide Hydrolase

(Previous name: N-acylaminoacyl-peptide hydrolase)
(Previous symbols: D3F15S2, DNF15S2, D3S48E)
  See APEH-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acylaminoacyl-Peptide Hydrolase1 2     AARE2 3
D3S48E1 2 3 5     APH2 3
D3F15S21 2 3     OPH2 3
DNF15S21 2 3     EC 3.4.19.13 8
N-Acylaminoacyl-Peptide Hydrolase1 2     ACPH2
acylaminoacyl-peptidase1 2     Acylamino-Acid-Releasing Enzyme2
Acyl-Peptide Hydrolase2 3     Acylaminoacyl-peptidase3
Oxidized Protein Hydrolase2 3     

External Ids:    HGNC: 5861   Entrez Gene: 3272   Ensembl: ENSG000001640627   OMIM: 1026455   UniProtKB: P137983   

Export aliases for APEH gene to outside databases

Previous GC identifers: GC03U990008 GC03M048683 GC03P049565 GC03P049670 GC03P049686


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for APEH Gene:
This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated
amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is
further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same
region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a
decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each
subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged
proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small
cell lung carcinoma and renal cell carcinoma. (provided by RefSeq, Jul 2008)

GeneCards Summary for APEH Gene:
APEH (acylaminoacyl-peptide hydrolase) is a protein-coding gene. Diseases associated with APEH include barbiturate dependence, and high pressure neurological syndrome. GO annotations related to this gene include serine-type endopeptidase activity.

UniProtKB/Swiss-Prot: ACPH_HUMAN, P13798
Function: This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to
generate an N-acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala,
Ac-Met and Ac-Ser

Gene Wiki entry for APEH Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the APEH gene promoter:
         SREBP-1c   CUTL1   LCR-F1   SREBP-1b   Max   FOXI1   SREBP-1a   SEF-1 (1)   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPEH promoter sequence
   Search Chromatin IP Primers for APEH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APEH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21

APEH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APEH gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P049711:  view genomic region     (about GC identifiers)

Start:
49,711,435 bp from pter      End:
49,721,396 bp from pter
Size:
9,962 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ACPH_HUMAN, P13798 (See protein sequence)
Recommended Name: Acylamino-acid-releasing enzyme  
Size: 732 amino acids; 81225 Da
Subunit: Homotetramer
Mass spectrometry: Mass=81269.9; Mass_error=8.7; Method=Electrospray; Range=1-732; Source=PubMed:10395453;
Sequence caution: Sequence=AAA35769.1; Type=Frameshift; Positions=Several;
Secondary accessions: Q9BQ33 Q9P0Y2

Explore the universe of human proteins at neXtProt for APEH: NX_P13798

Explore proteomics data for APEH at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys131, Lys180, Lys291, Lys443, Lys664, Lys681, Lys704
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for APEH (P13798) (see all 18)
     LKVGFLP  VPRQLGE  GGKCELLSD  GSWKLLTID 


    See APEH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001631.3  
    ENSEMBL proteins: 
     ENSP00000296456   ENSP00000414369   ENSP00000410149   ENSP00000402365   ENSP00000415862  
     ENSP00000401871   ENSP00000410366   ENSP00000404353   ENSP00000438180  

    APEH Human Recombinant Protein Products:

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    Novus Biologicals APEH Protein
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for APEH

     
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    antibodies-online proteins for APEH (5 products) 

     
    antibodies-online peptides for APEH

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    antibodies-online antibodies for APEH (25 products) 

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    Cloud-Clone Corp. ELISAs for APEH
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    antibodies-online kits for APEH (12 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001375 Peptidase_S9
     IPR002471 Pept_S9_AS
     IPR011042 6-blade_b-propeller_TolB-like

    Graphical View of Domain Structure for InterPro Entry P13798

    ProtoNet protein and cluster: P13798

    1 Blocks protein domain: IPB002471 Prolyl endopeptidase

    UniProtKB/Swiss-Prot: ACPH_HUMAN, P13798
    Similarity: Belongs to the peptidase S9C family


    Find genes that share domains with APEH           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACPH_HUMAN, P13798
    Function: This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to
    generate an N-acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala,
    Ac-Met and Ac-Ser
    Catalytic activity: Cleavage of an N-acetyl or N-formyl amino acid from the N-terminus of a polypeptide

         Genatlas biochemistry entry for APEH:
    N-acylaminoacyl-peptide hydrolase,with reduced expression in renal cell carcinoma (see D3F15S2,D3S94,TSG3C),highly
    homolog to the tightly linked MST1 gene

         Enzyme Number (IUBMB): EC 3.4.19.11 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IDA17241160
    GO:0008236serine-type peptidase activity ----
    GO:0008242omega peptidase activity IDA17241160
    GO:0016787hydrolase activity ----
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with APEH           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for APEH:
     Decreased homologous recombina  Upregulation of Wnt/beta-caten 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for APEH

    miRNA
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    miRTarBase miRNAs that target APEH:
    hsa-mir-30a-5p (MIRT028647), hsa-mir-615-3p (MIRT040071), hsa-mir-1 (MIRT023935), hsa-mir-34a-5p (MIRT025535), hsa-mir-186-5p (MIRT044968), hsa-mir-193b-3p (MIRT041452)

    Block miRNA regulation of human, mouse, rat APEH using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidAPEH 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACPH_HUMAN, P13798: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    lysosome1
    peroxisome1
    plasma membrane1
    vacuole1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0031965nuclear membrane IDA--
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with APEH           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for APEH
    Interactions:

        Search GeneGlobe Interaction Network for APEH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for APEH (P137982, 3 ENSP000002964564) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IST1P539902, 3, ENSP000003304084MINT-68393 I2D: score=5 STRING: ENSP00000330408
    UBA5Q9GZZ92, 3, ENSP000003485654MINT-67134 I2D: score=5 STRING: ENSP00000348565
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    MCCP235083, ENSP000003862274I2D: score=1 STRING: ENSP00000386227
    SHBGP042783, ENSP000003698164I2D: score=2 STRING: ENSP00000369816
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IDA17241160
    GO:0050435beta-amyloid metabolic process IDA17241160

    Find genes that share ontologies with APEH           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for APEH (ACPH)

    Selected Novoseek inferred chemical compound relationships for APEH gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paraoxon 91.9 28 15642457 (3), 11753944 (2), 15294802 (2), 20138483 (1) (see all 21)
    diisopropylfluorophosphate 78.3 17 10719179 (3), 10731698 (3), 11921441 (1), 20441875 (1) (see all 6)
    methylparathion 75.4 4 16489921 (1), 11544037 (1), 14991648 (1), 15294802 (1)
    sarin 73.9 5 14985944 (2), 15033522 (1), 15888665 (1), 10421455 (1)
    coumaphos 73.7 3 16292554 (2), 15741066 (1)
    soman 71.9 3 15033522 (1), 14985944 (1), 10421455 (1)
    p-nitrophenol 67.1 5 17139155 (1), 17616234 (1), 11544037 (1), 14991648 (1) (see all 5)
    parathion 64.8 3 17139155 (1), 11544037 (1), 11118318 (1)
    chlorpyrifos 42.3 2 15888665 (1), 15294802 (1)
    serine 31.3 7 17241160 (2), 10719179 (1), 20221871 (1), 10731698 (1)



    Find genes that share compounds with APEH           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for APEH gene: 
    NM_001640.3  

    Unigene Cluster for APEH:

    N-acylaminoacyl-peptide hydrolase
    Hs.517969  [show with all ESTs]
    Unigene Representative Sequence: BC000362
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296456(uc010hkw.1 uc003cxf.3) ENST00000449966 ENST00000483715
    ENST00000446089 ENST00000491799 ENST00000442186 ENST00000438011 ENST00000463995
    ENST00000462439 ENST00000447436 ENST00000463616 ENST00000457042 ENST00000447541
    ENST00000482301 ENST00000469362 ENST00000480772
    miRNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APEH
      QuantiTect SYBR Green Assays in human, mouse, rat APEH
      QuantiFast Probe-based Assays in human, mouse, rat APEH

    Additional mRNA sequence: 

    AF141383.1 AK314962.1 BC000362.2 BC001499.2 BC001826.2 D38441.1 

    Selected DOTS entries (see all 41):

    DT.85104237  DT.120904094  DT.95251572  DT.102840613  DT.120904071  DT.100828706  DT.120904126  DT.120904130 
    DT.120904428  DT.100045156  DT.100828712  DT.120904104  DT.92457317  DT.100828704  DT.102840617  DT.120904718 
    DT.100828708  DT.102840609  DT.95251481  DT.100828705  DT.120904208  DT.95251445  DT.120904784  DT.120904334 

    Selected AceView cDNA sequences (see all 633):

    F33318 BM927172 BE396891 BU501035 BM745773 CD370781 AA428814 BF475980 
    AL524323 CD368109 BM772114 BM853851 CD612291 BE901609 AI953805 BQ233573 
    BM748199 NM_001640 BM765691 CD107175 BQ049687 AW662652 BE300903 BM559105 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for APEH (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17 ^ 18a ·
    SP1:                                                                                                                          -                             -   
    SP2:                                                                                                                    -     -     -                       -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                      -                                                                                                                     

    ExUns: 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for APEH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    APEH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTGATCAG
    APEH Expression
    About this image


    APEH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Ovary (Reproductive System)
             Oviduct
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Brain (Nervous System)
             Cerebellum
    APEH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APEH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517969
        Custom PCR Arrays for APEH
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APEH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for APEH gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apeh1 , 5 acylpeptide hydrolase1, 5 89.16(n)1
    91.39(a)1
      9 (59.07 cM)5
    2356061  NM_146226.21  NP_666338.21 
     1080854175 
    chicken
    (Gallus gallus)
    Aves APEH1 N-acylaminoacyl-peptide hydrolase 70.33(n)
    66.07(a)
      415926  NM_001030585.1  NP_001025756.1 
    lizard
    (Anolis carolinensis)
    Reptilia APEH6
    acylaminoacyl-peptide hydrolase
    67(a)
    1 ↔ 1
    2(149568679-149591774)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.70362 Transcribed sequence with weak similarity to protein more 71.15(n)    BG886239.1 
    zebrafish
    (Danio rerio)
    Actinopterygii apeh2 acylpeptide hydrolase 73.17(n)   321028  BC048895.1 
    worm
    (Caenorhabditis elegans)
    Secernentea R11E3.83
    dpf-51
    dpf-51 33(a)3
    45.87(n)1
    35.73(a)1
      IV(4803026-4806763)3
    1772511  NM_068246.61  NP_500647.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G145701 AT4G14570 45.25(n)
    36.08(a)
      827104  NM_117537.3  NP_193193.2 
    rice
    (Oryza sativa)
    Liliopsida Os10g04158001 Os10g0415800 44.68(n)
    36.97(a)
      4348628  NM_001071138.1  NP_001064603.1 


    ENSEMBL Gene Tree for APEH (if available)
    TreeFam Gene Tree for APEH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for APEH (see all 338)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1428277981,2
    --49641548(+) TCTTCA/TTTTTA 1 -- us2k10--------
    rs763830091,2
    C--49641893(+) TTTTTC/TTTGAG 1 -- us2k10--------
    rs124969241,2
    H--49642285(+) ccattC/Ttcctg 1 -- us2k10--------
    rs67678781,2
    C,F,A,H--49642310(+) gtaacT/Agggac 1 -- us2k14Minor allele frequency- A:0.38NA 8
    rs130935251,2
    C--49642409(+) CCTGAG/CCTCGT 1 -- us2k14Minor allele frequency- C:0.00NA 8
    rs130933851,2
    C,F--49642444(+) agtgcA/Tgggat 1 -- us2k15Minor allele frequency- T:0.42NA 12
    rs1895446261,2
    --49642552(+) GGCTGA/TTGGGA 1 -- us2k10--------
    rs1807411411,2
    C--49642563(+) AAGGGA/GAAGCT 1 -- us2k10--------
    rs1509021781,2
    --49642633(+) CTGAAC/TGTGGA 1 -- us2k10--------
    rs1148388571,2
    C,F--49642860(+) AGGGAC/TCCACC 1 -- us2k11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for APEH (49711435 - 49721396 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for APEH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820990CNV Duplication20802225
    nsv508217CNV Loss20534489
    esv28815CNV Gain+Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APEH
    DNA2.0 Custom Variant and Variant Library Synthesis for APEH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 102645    OMIM disorders: --

    4 diseases for APEH:    
    About MalaCards
    barbiturate dependence    high pressure neurological syndrome    placenta praevia    renal cell carcinoma

    5 diseases from the University of Copenhagen DISEASES database for APEH:
    Placenta praevia     High pressure neurological syndrome     Barbiturate dependence     Hypertrophic cardiomyopathy
    Placental abruption

    Find genes that share disorders with APEH           About GenesLikeMe

    8 Novoseek inferred disease relationships for APEH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    poisoning 22.7 3 12857941 (1), 14985944 (1), 15888665 (1)
    small cell lung cancer 21 2 8724851 (1), 1655021 (1)
    cholestasis 13.9 2 10925723 (1), 8210624 (1)
    immunodeficiency 7.57 4 1525395 (1), 8347129 (1), 2241099 (1), 1525334 (1)
    tumors 2.05 1 1655021 (1)
    intoxication 0 1 12857941 (1)
    carcinoma 0 1 1328432 (1)
    carcinoma renal cell 0 4 1861871 (2), 1655021 (1)

    Genetic Association Database (GAD): APEH
    Human Genome Epidemiology (HuGE) Navigator: APEH (2 documents)

    Export disorders for APEH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for APEH gene, integrated from 10 sources (see all 138):
    (articles sorted by number of sources associating them with APEH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of oxidized protein hydrolase of human erythrocytes as acylpeptide hydrolase. (PubMed id 10719179)1, 2, 9 Fujino T.... Yasuda H. (Biochim. Biophys. Acta 2000)
    2. Genetic relationship between acylpeptide hydrolase and acylase, two hydrolytic enzymes with similar binding but different catalytic specificities. (PubMed id 2006156)1, 2, 9 Jones W.M....Manning J.M. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    3. The nucleotide sequence of human acylamino acid-releasing enzyme. (PubMed id 8724851)1, 2, 9 Mitta M.... Tsunasawa S. (DNA Res. 1996)
    4. The gene from the short arm of chromosome 3, at D3F15S2, frequently deleted in renal cell carcinoma, encodes acylpeptide hydrolase. (PubMed id 1861871)1, 2, 9 Erlandsson R.... Joernvall H. (Oncogene 1991)
    5. Acylpeptide hydrolase: inhibitors and some active site residues of the human enzyme. (PubMed id 1740429)1, 2, 9 Scaloni A.... Manning J.M. (J. Biol. Chem. 1992)
    6. Crystallization and preliminary X-ray studies of human erythrocyte acylpeptide hydrolase. (PubMed id 8411161)1, 2, 9 Feese M.... Remington S.J. (J. Mol. Biol. 1993)
    7. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1, 4 Anderson C.A....Rioux J.D. (Nat. Genet. 2011)
    8. Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PubMed id 20307617)1, 4 Morgan A.R....Ferguson L.R. (Hum. Immunol. 2010)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Structural investigations on human erythrocyte acylpeptide hydrolase by mass spectrometric procedures. (PubMed id 10395453)1, 2 Scaloni A....Manning J.M. (J. Protein Chem. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 327 HGNC: 586 AceView: APEH Ensembl:ENSG00000164062 euGenes: HUgn327
    ECgene: APEH H-InvDB: APEH

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for APEH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for APEH Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for APEH gene:
    Search GeneIP for patents involving APEH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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